Relationship between physical performance and quality of life in Charcot-Marie-Tooth disease: a pilot study
Daniel Roberts-Clarke
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorChe Fornusek
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorNidhi Saigal
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorMark Halaki
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorJoshua Burns
Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, Australia
Search for more papers by this authorGarth Nicholson
Concord Clinical School, ANZAC Institute, Concord Repatriation Hospital, Concord, Australia
Search for more papers by this authorMaria Fiatarone Singh
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorCorresponding Author
Daniel Hackett
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Address correspondence to: Dr. Daniel Hackett, Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, University of Sydney, 75 East Street, Lidcombe, NSW 2141, Australia. Tel: +(61) 9351 9294; Fax: +(61) 9351 9204; E-mail: [email protected]Search for more papers by this authorDaniel Roberts-Clarke
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorChe Fornusek
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorNidhi Saigal
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorMark Halaki
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorJoshua Burns
Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, Australia
Search for more papers by this authorGarth Nicholson
Concord Clinical School, ANZAC Institute, Concord Repatriation Hospital, Concord, Australia
Search for more papers by this authorMaria Fiatarone Singh
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Search for more papers by this authorCorresponding Author
Daniel Hackett
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia
Address correspondence to: Dr. Daniel Hackett, Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, University of Sydney, 75 East Street, Lidcombe, NSW 2141, Australia. Tel: +(61) 9351 9294; Fax: +(61) 9351 9204; E-mail: [email protected]Search for more papers by this authorAbstract
Charcot-Marie-Tooth (CMT) is a rare inherited peripheral neuropathy in which quality of life (QoL) is reduced compared with the general population. This paper investigates the relationship between QoL and physical performance in people with CMT with the aim of identifying avenues for future research into rehabilitation strategies. Cross-sectional data was obtained from 10 participants (5 men, 5 women, age 46 ± 13 years, height 1.7 ± 0.1 m, body mass 77 ± 17 kg) with CMT (CMT1A n = 5; CMT-X n = 3; unknown genetic origin n = 2). Participants were evaluated for QoL, falls efficacy (FES), balance, mobility, muscle strength, and power. Physical component score (PCS) of the Short Form-36 (SF-36) was significantly and directly related to higher leg press power (r = 0.75, p = 0.02). Better FES scores were significantly related to faster habitual gait speed (r = −0.70, p = 0.02), left hip abduction, and seated row strength (r = −0.68, p = 0.03; r = −0.73, p = 0.03, respectively). Future research should aim to substantiate these preliminary findings in a larger cohort and investigate whether interventions targeting muscle strength and power can improve QoL and mobility outcomes in people with CMT.
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